Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Anna ByrjalsenThomas V O HansenUlrik Kristoffer StoltzeMana M MehrjouyNanna Moeller BarnkobLisa Lyngsie HjalgrimRené MathiasenCharlotte K LautrupPernille Axel GregersenHenrik HaslePeder S WehnerRuta TuckuvienePeter Wad SackettAdrian O LaspiurMaria RossingRasmus Lykke MarvigNiels TommerupTina Elisabeth OlsenDavid ScheieRamneek GuptaAnne-Marie GerdesKjeld SchmiegelowKarin A W WadtPublished in: PLoS genetics (2020)
These results demonstrate the value of systematically screening pediatric cancer patients for CPSs and indicate that a higher proportion of childhood cancers may be linked to predisposing germline variants than previously supposed.